Biography

Dr. Bobby Koeleman is Group Leader at the department of Genetics within the Center for Molecular Medicine at the University Medical Center Utrecht since 2001.  He is an expert in genetics, dedicated to find genetic causes of both common and rare genetic disease, and subsequently aims to translate the genetic finding to clinical relevance. He received a NWO VIDI grant in 2010, and support by various grants from the Dutch  Diabetes  Foundation,  Dutch  Hart  Foundation, Dutch  Epilepsy  Foundation,  Dutch  Arthritis  Foundation, Zon-MW  NWO,  and  EU  Fp6,  Fp7, and  ESF programs.

We focus on the genetic causes of Autoimmune diseases and epilepsy. An important aim of our studies is to translate genetic findings to clinical relevance. We perform genetic research of common epilepsy through Genome-Wide Association Studies (GWAS) and pharmacogenetic studies.  We have coordinated analysis of the first GWAS in common epilepsies that showed that SCN1A is the major susceptibility locus for both focal and generalized epilepsy. Large patients cohorts are at the hart of these studies and we are collaborating with the Epilepsy Expert center SEIN to establish the largest epilepsy cohort in The Netherlands.  

We further are dedicated to find the monogenic causes of severe childhood epilepsy. Through Next Generation Sequencing studies we have contributed to the discovery of several new epilepsy genes, including HCN1, STX1B, CHD2, and DNM1. We are particularly interested to improve diagnosis and treatment, and find new treatment modalities for these rare genetic epilepsies, through detailed geno-phenotype and functional studies.

Finally, we are performing translational studies in Type 1 Diabetes together with the LUMC in a Dutch network that is particular interested in post-translation modification as a source of novel disease determinants and biomarkers. 

Research line

Epilepsy genetics

Most recent key publications

1: Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BPC, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015;138(Pt 11):3238-50
2: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Boerma RS, Braun KP, van de Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BPC. Neurotherapeutics. 2015 Epub
3: CHD2 variants are a risk factor for photosensitivity in epilepsy. Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BPC*, Mefford HC*, Scheffer IE*, Sisodiya SM*. Brain. 2015 ;138:1198-207. (* shared last author)
4: Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. International League Against Epilepsy Consortium on Complex Epilepsies. Lancet Neurol. 2014;13(9):893-903. A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BPC. Hum Mol Genet. 2014 ;23(22):6081-7.